SMN1 copy‐number and sequence variant analysis from next‐generation sequencing data

Spinal muscular atrophy (SMA) is a severe neuromuscular autosomal recessive disorder affecting 1/10,000 live births. Most SMA patients present homozygous deletion of SMN1, while the vast majority of SMA carriers present only a single SMN1 copy. The sequence similarity between SMN1 and SMN2, and the...

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Detalles Bibliográficos
Autores principales: Lopez‐Lopez, Daniel, Loucera, Carlos, Carmona, Rosario, Aquino, Virginia, Salgado, Josefa, Pasalodos, Sara, Miranda, María, Alonso, Ángel, Dopazo, Joaquín
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Informatics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7756735/
https://www.ncbi.nlm.nih.gov/pubmed/33058415
http://dx.doi.org/10.1002/humu.24120

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7756735/
https://www.ncbi.nlm.nih.gov/pubmed/33058415
http://dx.doi.org/10.1002/humu.24120

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